Nathan Fortier

Analyzing the Performance of Deep Learning Splice Prediction Algorithms

This study compares deep learning splice prediction algorithms, finding open-source reimplementations match the original SpliceAI in performance while outperforming traditional methods.

VSPGx: A High-Accuracy Pharmacogenomics Interpretation Software Solution with Automated CPIC Guideline Integration

VSPGx is a pharmacogenomics software that accurately identifies diplotypes and annotates them with CPIC guidelines, outperforming existing tools in synthetic and clinical benchmarks.

Analyzing Performance of Twist Bioscience Exome Enrichment with Spike-in CNV Backbone Panels at Various Probe Densities Leveraging Golden Helix VS-CNV Analysis Software

This study evaluates the performance of Twist Bioscience's enhanced exome capture kit with VS-CNV 2.6 in detecting CNVs, achieving 100% sensitivity across probe densities.